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hrp0092p1-297 | Adrenals and HPA Axis (2) | ESPE2019

A Novel Compound Heterozygous Mutation in the CYP11B2 Gene, Including an Intron 7 Splice Site, is Responsible for Aldosterone Synthase Deficiency Type II

Zhu Jianfang , Chen Hong , Wang Chunlin , Fang Yanlan , Kong Yuanmei , Liang Li

Objective: To investigate the clinical and molecular characteristics of a girl with aldosterone synthase deficiency type II (ASDII). We also identified the consequences of a novel splice site mutation in the CYP11B2 gene.Materials and Methods: A4-month-old girl presented with vomiting, diarrhea, and failure to thrive. Her 17α-OHP, cortisol, renin, and aldosterone were all in the normal range, and the ACTH stimulatio...

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ESPE Abstracts

A Novel Compound Heterozygous Mutation in the CYP11B2 Gene, Including an Intron 7 Splice Site, is Responsible for Aldosterone Synthase Deficiency Type II

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